NM_000249.4(MLH1):c.207+26del AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 21, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000409919.2

Allele description [Variation Report for NM_000249.4(MLH1):c.207+26del]

NM_000249.4(MLH1):c.207+26del

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.207+26del

HGVS:

NC_000003.12:g.36996735del
NG_007109.2:g.8386del
NG_008418.1:g.1570del
NM_000249.4:c.207+26delMANE SELECT
NM_001167617.3:c.-83+26del
NM_001167618.3:c.-517+26del
NM_001167619.3:c.-425+26del
NM_001258271.2:c.207+26del
NM_001258273.2:c.-517+3072del
NM_001258274.3:c.-662+26del
NM_001354615.2:c.-420+26del
NM_001354616.2:c.-425+26del
NM_001354617.2:c.-517+26del
NM_001354618.2:c.-517+26del
NM_001354619.2:c.-517+26del
NM_001354620.2:c.-83+26del
NM_001354621.2:c.-610+26del
NM_001354622.2:c.-723+26del
NM_001354623.2:c.-723+2845del
NM_001354624.2:c.-620+26del
NM_001354625.2:c.-523+26del
NM_001354626.2:c.-620+26del
NM_001354627.2:c.-620+26del
NM_001354628.2:c.207+26del
NM_001354629.2:c.207+26del
NM_001354630.2:c.207+26del
LRG_216:g.8386del
NC_000003.11:g.37038226del
NM_000249.3:c.207+26delA

Links:

dbSNP: rs1057517621

NCBI 1000 Genomes Browser:

rs1057517621

Molecular consequence:

NM_000249.4:c.207+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167617.3:c.-83+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167618.3:c.-517+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167619.3:c.-425+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258271.2:c.207+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258273.2:c.-517+3072del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258274.3:c.-662+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354615.2:c.-420+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354616.2:c.-425+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354617.2:c.-517+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354618.2:c.-517+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354619.2:c.-517+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354620.2:c.-83+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354621.2:c.-610+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354622.2:c.-723+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-723+2845del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354624.2:c.-620+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-523+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.-620+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.-620+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354628.2:c.207+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354629.2:c.207+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354630.2:c.207+26del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Colorectal cancer, hereditary nonpolyposis, type 2 (LYNCH2)
Synonyms:: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

Recent activity

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sterol regulatory element-binding protein cleavage-activating protein isoform X1...
sterol regulatory element-binding protein cleavage-activating protein isoform X1 [Homo sapiens]
gi|2217342675|ref|XP_047303692.1|

Protein
PREDICTED: Brassica napus zinc finger protein ZAT4-like (LOC106351520), transcri...
PREDICTED: Brassica napus zinc finger protein ZAT4-like (LOC106351520), transcript variant X2, mRNA
gi|1249700698|ref|XM_013791310.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000489544	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Oct 21, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000489544

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely benign
(Oct 21, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000489544.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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